マッカードル病

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)	PYGM	Pathogenic/Likely pathogenic	11	64514420	64514420	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16041493
single nucleotide variant	NM_005609.4(PYGM):c.1768+1G>A	PYGM	Pathogenic/Likely pathogenic	11	64519395	64519395	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275011,OMIM:608455.0007
Deletion	NM_005609.4(PYGM):c.78_79del (p.Glu27fs)	PYGM	Pathogenic/Likely pathogenic	11	64527292	64527293	TCA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273947
Deletion	NM_005609.4(PYGM):c.407del (p.Gly136fs)	PYGM	Pathogenic/Likely pathogenic	11	64525926	64525926	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA274407
single nucleotide variant	NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)	PYGM	Pathogenic/Likely pathogenic	11	64522792	64522792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA274003
Deletion	NM_005609.4(PYGM):c.1797del (p.Phe599fs)	PYGM	Pathogenic/Likely pathogenic	11	64519099	64519099	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA273986
single nucleotide variant	NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)	PYGM	Pathogenic/Likely pathogenic	11	64526165	64526165	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345696
Deletion	NM_005609.4(PYGM):c.2262del (p.Lys754fs)	PYGM	Pathogenic/Likely pathogenic	11	64514746	64514746	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA222888
single nucleotide variant	NM_005609.4(PYGM):c.1366G>A (p.Val456Met)	PYGM	Pathogenic/Likely pathogenic	11	64521028	64521028	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA222880
single nucleotide variant	NM_005609.4(PYGM):c.1827G>A (p.Lys609=)	PYGM	Pathogenic/Likely pathogenic	11	64519069	64519069	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339964,OMIM:608455.0016